Key result
Recent advances in phenotypic classification have linked familial mitral valve prolapse to sites on chromosomes 11, 13, and 16, and identified an X-linked filamin A mutation.
Understanding the genetic basis of mitral valve prolapse, including filamin A mutations, may provide clues for future therapies to prevent disease progression.
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Genetic loci in familial mitral valve prolapse remain hypothesis-generating; prospective validation required before clinical application.
Levine et al. (2007) conducted a review in Mitral valve prolapse. Recent advances in phenotypic classification have linked familial mitral valve prolapse to sites on chromosomes 11, 13, and 16, and identified an X-linked filamin A mutation.
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